Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74752028_74752029del , CM000677.2:g.74752028_74752029del | GRCh38 |
| NC_000015.9:g.75044369_75044370del , CM000677.1:g.75044369_75044370del | GRCh37 |
| NC_000015.8:g.72831422_72831423del | NCBI36 |
| NG_008431.1:g.34487_34488del | |
| NG_008431.2:g.34487_34488del | |
| NG_061543.1:g.8184_8185del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.1043-96_1043-95del MANE Select | ENSP00000342007.4:n.1043-96_1043-95del | |
| ENST00000343932.4:c.1043-96_1043-95del | ENSP00000342007.4:n.1043-96_1043-95del | |
| NM_000761.4:c.1043-96_1043-95del | NP_000752.2:n.1043-96_1043-95del | |
| NM_000761.5:c.1043-96_1043-95del MANE Select | NP_000752.2:n.1043-96_1043-95del |